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rs587784135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784135(A;A)
Make rs587784135(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177260043
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784135
dbSNP (classic)rs587784135
ClinGenrs587784135
ebirs587784135
HLIrs587784135
Exacrs587784135
Gnomadrs587784135
Varsomers587784135
LitVarrs587784135
Maprs587784135
PheGenIrs587784135
Biobankrs587784135
1000 genomesrs587784135
hgdprs587784135
ensemblrs587784135
geneviewrs587784135
scholarrs587784135
googlers587784135
pharmgkbrs587784135
gwascentralrs587784135
openSNPrs587784135
23andMers587784135
SNPshotrs587784135
SNPdbers587784135
MSV3drs587784135
GWAS Ctlgrs587784135
Max Magnitude0
ClinVar
Risk rs587784135(A;A) rs587784135(C;C)
Alt rs587784135(A;A) rs587784135(C;C)
Reference Rs587784135(G;G)
Significance Probable-Pathogenic
Disease Sotos syndrome 1 not specified
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not specified
Reversed 0
HGVS NC_000005.9:g.176687044G>A; NC_000005.9:g.176687044G>C
CLNSRC
CLNACC RCV000146861.1, RCV000308013.1,